Epm2a - epilepsy, progressive myoclonic epilepsy, type 2 gene alpha Gene

Mus musculus

Also known as TG-B; Tg(TcraK,TcrbK)TG-BFlv

Gene ID: 13853 | Gene type: protein coding

About Epm2a

Summary

Enables identical protein binding activity; Phosphatase activity; and starch binding activity. Involved in carbohydrate phosphorylation and glycogen metabolic process. Acts upstream of or within several processes, including glycogen biosynthetic process; habituation; and regulation of cellular protein metabolic process. Located in several cellular components, including cytoplasmic side of endoplasmic reticulum membrane; dendrite; and perikaryon. Is expressed in several structures, including brain. Used to study Lafora disease and lymphoma. Human ortholog(s) of this gene implicated in Lafora disease and progressive myoclonus epilepsy. Orthologous to human EPM2A (EPM2A glucan Phosphatase, laforin). [provided by Alliance of Genome Resources, Apr 2022]

Epm2a Products(1)

mRNA	Protein	Name
NM_010146.2	NP_034276.2	laforin

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables alpha-1,4-glucan glucosyltransferase (UDP-glucose donor) activity	IEP IEP: Inferred from expression pattern	18852261	MGI
enables carbohydrate phosphatase activity	IDA IDA: Inferred from direct assay	18040046	MGI
enables carbohydrate phosphatase activity	IMP IMP: Inferred from mutant phenotype	18040046	MGI
enables identical protein binding	IPI IPI: Inferred from physical interaction	16971387	MGI
enables phosphatase activity	IDA IDA: Inferred from direct assay	24430976	MGI
enables phosphoprotein phosphatase activity	IDA IDA: Inferred from direct assay	16971387	MGI
enables polysaccharide binding	IDA IDA: Inferred from direct assay	15102711	MGI
enables protein binding	IPI IPI: Inferred from physical interaction	16959610	MGI
enables protein serine/threonine phosphatase activity	IDA IDA: Inferred from direct assay	16971387	MGI
enables protein tyrosine phosphatase activity	IDA IDA: Inferred from direct assay	15541350	MGI
enables starch binding	IDA IDA: Inferred from direct assay	15102711	MGI

Biological Process GO Annotation	Evidence	Reference	Source
acts upstream of or within L-glutamate transmembrane transport	IMP IMP: Inferred from mutant phenotype	26976331	MGI
acts upstream of or within Wnt signaling pathway	IMP IMP: Inferred from mutant phenotype	16971387	MGI
acts upstream of or within autophagosome assembly	IMP IMP: Inferred from mutant phenotype	24430976	MGI
acts upstream of or within autophagy	IMP IMP: Inferred from mutant phenotype	24914213	MGI
acts upstream of or within calcium ion transport	IMP IMP: Inferred from mutant phenotype	28063983	MGI
involved in carbohydrate phosphorylation	IMP IMP: Inferred from mutant phenotype	18852261	MGI
acts upstream of or within glial cell proliferation	IGI IGI: Inferred from genetic interaction	28973665	MGI
involved in glycogen biosynthetic process	IDA IDA: Inferred from direct assay	18040046	MGI
acts upstream of or within glycogen biosynthetic process	IGI IGI: Inferred from genetic interaction	28536304	MGI
acts upstream of or within glycogen biosynthetic process	IMP IMP: Inferred from mutant phenotype	28536304	MGI
involved in glycogen biosynthetic process	IMP IMP: Inferred from mutant phenotype	17118331	MGI
acts upstream of or within glycogen metabolic process	IGI IGI: Inferred from genetic interaction	21552327	MGI
acts upstream of or within glycogen metabolic process	IMP IMP: Inferred from mutant phenotype	23663739	MGI
involved in glycogen metabolic process	IMP IMP: Inferred from mutant phenotype	18852261	MGI
acts upstream of or within habituation	IMP IMP: Inferred from mutant phenotype	12019206	MGI
acts upstream of or within macromolecule metabolic process	IMP IMP: Inferred from mutant phenotype	23663739	MGI
acts upstream of or within mitochondrion organization	IMP IMP: Inferred from mutant phenotype	28063983	MGI
acts upstream of or within negative regulation of cell cycle	IMP IMP: Inferred from mutant phenotype	18824542	MGI
acts upstream of or within negative regulation of gene expression	IMP IMP: Inferred from mutant phenotype	18824542	MGI
acts upstream of or within negative regulation of peptidyl-serine phosphorylation	IMP IMP: Inferred from mutant phenotype	18824542	MGI
acts upstream of or within nervous system development	IMP IMP: Inferred from mutant phenotype	12019206	MGI
acts upstream of or within positive regulation of macroautophagy	IGI IGI: Inferred from genetic interaction	20453062	MGI
acts upstream of or within positive regulation of macroautophagy	IMP IMP: Inferred from mutant phenotype	20453062	MGI
acts upstream of or within proteasome-mediated ubiquitin-dependent protein catabolic process	IMP IMP: Inferred from mutant phenotype	24914213	MGI
acts upstream of or within regulation of cell growth	IMP IMP: Inferred from mutant phenotype	18824542	MGI
acts upstream of or within regulation of gene expression	IMP IMP: Inferred from mutant phenotype	24914213	MGI
acts upstream of or within regulation of glycogen (starch) synthase activity	IMP IMP: Inferred from mutant phenotype	18040046	MGI
acts upstream of or within regulation of phosphorylation	IMP IMP: Inferred from mutant phenotype	18040046	MGI
acts upstream of or within regulation of proteasomal protein catabolic process	IMP IMP: Inferred from mutant phenotype	27107699	MGI
acts upstream of or within regulation of protein import into nucleus	IDA IDA: Inferred from direct assay	16971387	MGI
acts upstream of or within regulation of protein kinase activity	IMP IMP: Inferred from mutant phenotype	24914213	MGI
acts upstream of or within regulation of protein localization to plasma membrane	IGI IGI: Inferred from genetic interaction	26976331	MGI
acts upstream of or within regulation of protein phosphorylation	IMP IMP: Inferred from mutant phenotype	18824542	MGI
acts upstream of or within regulation of protein ubiquitination	IGI IGI: Inferred from genetic interaction	26976331	MGI
acts upstream of or within regulation of ubiquitin protein ligase activity	IMP IMP: Inferred from mutant phenotype	28063983	MGI

Cellular Component GO Annotation	Evidence	Reference	Source
located in cytoplasm	IDA IDA: Inferred from direct assay	17908927	MGI
located in cytoplasmic side of endoplasmic reticulum membrane	IDA IDA: Inferred from direct assay	15102711	MGI
is active in cytosol	IMP IMP: Inferred from mutant phenotype	22669944	MGI
located in dendrite	IDA IDA: Inferred from direct assay	15102711	MGI
located in nucleus	IDA IDA: Inferred from direct assay	17908927	MGI
located in perikaryon	IDA IDA: Inferred from direct assay	15102711	MGI

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

Protein Preferred Names

Protein Names

laforin

LAFPTPase	glucan phosphatase
lafora PTPase

Epm2a Protein-protein interaction Information

Type Cross Intra	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Reference
Cross	Epm2a	Q9WUA5	NHLRC1	Homo sapiens	Q6VVB1	Anti Tag CoIP	22578008

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS04441	EPM2A Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Homo sapiens	Epm2a	NCBI	NCBI:7957

Name
Email *

	Sorry, but the email address you supplied was invalid.